ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2261+49A>T

gnomAD frequency: 0.97007  dbSNP: rs7697650
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680750 SCV001899907 benign not provided 2021-03-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788755 SCV002029854 benign Intellectual disability, autosomal recessive 53 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001680750 SCV005305842 benign not provided criteria provided, single submitter not provided

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