ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.157+20C>T

gnomAD frequency: 0.00160  dbSNP: rs191816760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126858 SCV000170387 benign not specified 2014-03-18 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.
Genome-Nilou Lab RCV001775600 SCV002014282 benign Spastic ataxia 4 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055683 SCV002378395 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002055683 SCV005317029 benign not provided criteria provided, single submitter not provided

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