ClinVar Miner

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

gnomAD frequency: 0.00332  dbSNP: rs141053122
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971982 SCV001119666 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971982 SCV001153723 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SBF1: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000441 SCV001157260 benign Charcot-Marie-Tooth disease type 4B3 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000971982 SCV001778168 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001000441 SCV002807186 likely benign Charcot-Marie-Tooth disease type 4B3 2021-08-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701273 SCV001921124 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701273 SCV001930906 benign not specified no assertion criteria provided clinical testing

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