ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.914CTG[1] (p.Ala306del)

dbSNP: rs2125498333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim RCV001787249 SCV002029075 uncertain significance Brugada syndrome 2 2021-10-01 criteria provided, single submitter clinical testing observed as mixed heterozygous variant together with pathogenic SCN5A-Variant; Patient with Brugada-Syndrome

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