ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.118-14T>C

gnomAD frequency: 0.00468  dbSNP: rs147692085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254523 SCV000304216 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000254523 SCV000514012 likely benign not specified 2018-02-16 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 RCV001511533 SCV001718798 benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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