ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.129T>C (p.Asp43=)

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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 RCV003048752 SCV003354281 likely benign Leber congenital amaurosis 4 2022-10-13 criteria provided, single submitter clinical testing

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