ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.762A>G (p.Ser254=)

gnomAD frequency: 0.00002  dbSNP: rs372013193
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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 RCV001442229 SCV001645176 likely benign Leber congenital amaurosis 3 2023-05-24 criteria provided, single submitter clinical testing

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