ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.264A>C (p.Pro88=)

gnomAD frequency: 0.00034  dbSNP: rs1294407459
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494925 SCV001699592 likely benign PRPH2-related disorder 2023-08-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706219 SCV005223781 likely benign not provided criteria provided, single submitter not provided

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