ClinVar Miner

Submissions for variant NM_019108.4(SMG9):c.1290G>A (p.Leu430=)

gnomAD frequency: 0.00375  dbSNP: rs144177272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886052 SCV001029535 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886052 SCV004139684 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SMG9: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000886052 SCV005308095 benign not provided criteria provided, single submitter not provided

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