ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=)

gnomAD frequency: 0.00125  dbSNP: rs139934512
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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 RCV001000271 SCV001156881 benign Autosomal recessive nonsyndromic hearing loss 8 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV001593172 SCV001816391 likely benign not provided 2020-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001593172 SCV002380825 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001593172 SCV005206343 likely benign not provided criteria provided, single submitter not provided

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