ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.961-15G>A

gnomAD frequency: 0.00011  dbSNP: rs376633948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444239 SCV000531107 likely benign not specified 2017-10-03 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 RCV001861608 SCV002148754 likely benign Tyrosinemia type I 2024-12-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703979 SCV005213306 likely benign not provided criteria provided, single submitter not provided

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