ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1434G>A (p.Glu478=)

gnomAD frequency: 0.00007  dbSNP: rs138205652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503017 SCV001707858 likely benign not provided 2023-09-19 criteria provided, single submitter clinical testing

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