ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val)

gnomAD frequency: 0.00001  dbSNP: rs1422897152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336872 SCV001530383 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV004727158 SCV005330591 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing B3GALT6: PM2

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