ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3147-8G>C

gnomAD frequency: 0.00030  dbSNP: rs182956712
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512802 SCV000609090 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SBF1: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000512802 SCV001066348 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000512802 SCV001786522 likely benign not provided 2019-10-29 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000512802 SCV002503312 uncertain significance not provided 2020-05-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230993 SCV005878795 likely benign Charcot-Marie-Tooth disease type 4B3 2024-01-09 criteria provided, single submitter clinical testing

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