ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2730+285G>A

gnomAD frequency: 0.00794  dbSNP: rs116921956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001580927 SCV001817547 likely benign not provided 2019-04-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001580927 SCV002821842 benign not provided 2024-08-01 criteria provided, single submitter clinical testing MET: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001580927 SCV005221497 likely benign not provided criteria provided, single submitter not provided

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