ClinVar Miner

Submissions for variant NM_016098.4(MPC1):c.30G>A (p.Ala10=)

gnomAD frequency: 0.00426  dbSNP: rs79498685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676791 SCV000513643 likely benign not provided 2021-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676791 SCV001114404 benign not provided 2024-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676791 SCV004158603 benign not provided 2022-10-01 criteria provided, single submitter clinical testing MPC1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000676791 SCV005226282 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676791 SCV000802593 likely benign not provided 2017-09-15 no assertion criteria provided clinical testing

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