ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=)

gnomAD frequency: 0.23708  dbSNP: rs45574236
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001691402 SCV001911940 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730971 SCV001981010 benign Alkuraya-Kucinskas syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001691402 SCV005302719 benign not provided criteria provided, single submitter not provided

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