ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg)

gnomAD frequency: 0.00922  dbSNP: rs193043234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001702 SCV001159274 benign Autosomal recessive nonsyndromic hearing loss 28 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001644891 SCV001856103 benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Invitae RCV001644891 SCV002403343 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001644891 SCV004011401 benign not provided 2024-02-01 criteria provided, single submitter clinical testing TRIOBP: BS1, BS2

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