ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.828T>G (p.Asp276Glu)

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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 RCV005475627 SCV006145436 uncertain significance Inborn genetic diseases 2025-04-30 criteria provided, single submitter clinical testing The c.828T>G (p.D276E) alteration is located in exon 3 (coding exon 3) of the RP2 gene. This alteration results from a T to G substitution at nucleotide position 828, causing the aspartic acid (D) at amino acid position 276 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005157982 SCV005785095 likely benign not provided 2025-12-19 criteria provided, single submitter clinical testing

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