ClinVar Miner

Submissions for variant NM_014520.4(MYBBP1A):c.2688C>T (p.Arg896=)

gnomAD frequency: 0.00580  dbSNP: rs144506752
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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 RCV000963150 SCV001110287 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963150 SCV004145638 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MYBBP1A: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000963150 SCV005252753 benign not provided criteria provided, single submitter not provided

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