ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.2230G>A (p.Gly744Ser)

gnomAD frequency: 0.00146  dbSNP: rs199581050
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959708 SCV001106628 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000959708 SCV005223081 likely benign not provided criteria provided, single submitter not provided

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