ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.731-49G>A

gnomAD frequency: 0.02423  dbSNP: rs55919310
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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
GeneDx RCV001545692 SCV001765072 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545692 SCV005228741 likely benign not provided criteria provided, single submitter not provided

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