ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.858C>T (p.Cys286=)

gnomAD frequency: 0.01068  dbSNP: rs375619082
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173225 SCV000224320 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001697160 SCV000718735 benign not provided 2018-05-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001560 SCV001158944 benign Autosomal recessive nonsyndromic hearing loss 79 2023-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001697160 SCV002424308 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697160 SCV002546133 benign not provided 2024-04-01 criteria provided, single submitter clinical testing TPRN: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001697160 SCV005318067 benign not provided criteria provided, single submitter not provided

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