ClinVar Miner

Submissions for variant NM_001001433.3(STX16):c.*651_*653dup

gnomAD frequency: 0.00368  dbSNP: rs566135029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330075 SCV000434800 likely benign Autosomal dominant pseudohypoaldosteronism type 1 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430866 SCV004150698 benign not provided 2022-05-01 criteria provided, single submitter clinical testing STX16: BS1, BS2

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