ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)

gnomAD frequency: 0.00205  dbSNP: rs146489206
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891826 SCV001035664 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000499 SCV001157393 benign Charcot-Marie-Tooth disease type 4B3 2020-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891826 SCV001747351 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SBF1: BP4, BP7, BS2
GeneDx RCV000891826 SCV001779195 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701236 SCV001923548 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000891826 SCV001930334 likely benign not provided no assertion criteria provided clinical testing

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