ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5604T>C (p.Val1868=) (rs141053122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971982 SCV001119666 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000971982 SCV001153723 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000441 SCV001157260 benign Charcot-Marie-Tooth disease, type 4B3 2019-03-18 criteria provided, single submitter clinical testing

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