ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.56-5C>T

gnomAD frequency: 0.00784  dbSNP: rs79658113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904395 SCV001048909 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000904395 SCV001784719 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117643 SCV003800482 benign Charcot-Marie-Tooth disease type 4B3 2023-09-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000904395 SCV005207818 likely benign not provided criteria provided, single submitter not provided

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