ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.564C>T (p.Ser188=)

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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 RCV002629305 SCV003518667 likely benign Leber congenital amaurosis 3 2022-08-19 criteria provided, single submitter clinical testing

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