ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.3977-4C>T

gnomAD frequency: 0.00003  dbSNP: rs140122864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612886 SCV000716643 likely benign not specified 2017-03-09 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.
Invitae RCV003558459 SCV004278285 benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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