ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1245G>C (p.Leu415=)

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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 RCV003815487 SCV004605983 likely benign Leber congenital amaurosis 3 2023-10-09 criteria provided, single submitter clinical testing

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