ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.4061+11_4061+12del

gnomAD frequency: 0.00006  dbSNP: rs767089812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609319 SCV000714195 likely benign not specified 2017-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609319 SCV002050772 benign not specified 2021-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062178 SCV002491804 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing

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