ClinVar Miner

Submissions for variant NM_001080512.3(BICC1):c.2047C>T (p.Leu683=)

gnomAD frequency: 0.00396  dbSNP: rs150269030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002052392 SCV002319150 likely benign not provided 2021-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002052392 SCV002402379 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493993 SCV002801854 likely benign Renal dysplasia, cystic, susceptibility to 2021-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002052392 SCV005220787 likely benign not provided criteria provided, single submitter not provided

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