ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1162+37T>A

gnomAD frequency: 0.95585  dbSNP: rs10932808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702197 SCV001933853 benign Alacrima, achalasia, and intellectual disability syndrome 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001713692 SCV001945049 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713692 SCV005240392 benign not provided criteria provided, single submitter not provided

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