ClinVar Miner

Submissions for variant NM_001375524.1(TRRAP):c.2200-46C>T

gnomAD frequency: 0.69438  dbSNP: rs1859662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001684080 SCV001898867 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838765 SCV002098874 benign Hearing loss, autosomal dominant 75 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838764 SCV002098875 benign Developmental delay with or without dysmorphic facies and autism 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001684080 SCV005267546 benign not provided criteria provided, single submitter not provided

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