ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.593A>G (p.Tyr198Cys)

gnomAD frequency: 0.00002  dbSNP: rs782195010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005271156 SCV005935224 uncertain significance Inborn genetic diseases 2025-02-25 criteria provided, single submitter clinical testing The c.593A>G (p.Y198C) alteration is located in exon 2 (coding exon 2) of the RP2 gene. This alteration results from a A to G substitution at nucleotide position 593, causing the tyrosine (Y) at amino acid position 198 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001320508 SCV001511297 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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