ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1161-9C>T

gnomAD frequency: 0.00006  dbSNP: rs370330394
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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 RCV002065543 SCV002480126 likely benign Leber congenital amaurosis 3 2022-09-19 criteria provided, single submitter clinical testing

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