ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.135G>A (p.Val45=)

gnomAD frequency: 0.00004  dbSNP: rs370529654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433974 SCV000527522 likely benign not specified 2016-05-17 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 RCV003743714 SCV004406256 likely benign Hereditary spastic paraplegia 43 2023-10-14 criteria provided, single submitter clinical testing

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