ClinVar Miner

Submissions for variant NM_007289.4(MME):c.1191C>T (p.Ala397=)

gnomAD frequency: 0.00330  dbSNP: rs35227300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884485 SCV001027870 benign not provided 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000884485 SCV001750913 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884485 SCV005074393 benign not provided 2024-06-01 criteria provided, single submitter clinical testing MME: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000884485 SCV005260933 likely benign not provided criteria provided, single submitter not provided

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