ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.158-9C>T

gnomAD frequency: 0.00466  dbSNP: rs139217290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439905 SCV000513715 benign not specified 2015-04-09 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.
Athena Diagnostics RCV000439905 SCV000614132 benign not specified 2021-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676297 SCV001109073 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676297 SCV000802054 likely benign not provided 2017-09-18 no assertion criteria provided clinical testing

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