ClinVar Miner

Submissions for variant NM_001497.4(B4GALT1):c.1064+5A>T

dbSNP: rs182359666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224633 SCV000281010 uncertain significance not provided 2016-02-17 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224633 SCV001118155 likely benign not provided 2024-09-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224633 SCV005330221 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing B4GALT1: BP4, BS2

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