ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)

dbSNP: rs559674920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344435 SCV001538488 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002469377 SCV002765147 likely pathogenic Stargardt disease 2022-12-20 no assertion criteria provided research PM2,PM3, PP2,PP4 ACMG Criteria

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