ClinVar Miner

Submissions for variant NM_005763.4(AASS):c.1043+171A>T

gnomAD frequency: 0.04739  dbSNP: rs41281707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001691935 SCV001912719 benign not provided 2021-05-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001691935 SCV005267057 benign not provided criteria provided, single submitter not provided

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