ClinVar Miner

Submissions for variant NM_001271696.3(ABCB7):c.1950C>G (p.Ala650=)

gnomAD frequency: 0.00008  dbSNP: rs367870900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419364 SCV000528202 likely benign not specified 2018-03-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003718238 SCV004513907 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003718238 SCV005210632 likely benign not provided criteria provided, single submitter not provided

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