ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.750C>T (p.Ala250=)

gnomAD frequency: 0.00002  dbSNP: rs782562995
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178946 SCV002476127 likely benign not provided 2026-02-02 criteria provided, single submitter clinical testing

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