ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.1856+19C>T

gnomAD frequency: 0.00020  dbSNP: rs182590005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335430 SCV001528580 uncertain significance Autosomal recessive nonsyndromic hearing loss 98 2018-05-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001552662 SCV001773392 likely benign not provided 2020-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001552662 SCV003033966 benign not provided 2023-10-22 criteria provided, single submitter clinical testing

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