ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)

dbSNP: rs1597229404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001029950 SCV001529266 uncertain significance Townes-Brocks syndrome 1 2018-02-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029950 SCV001192748 likely pathogenic Townes-Brocks syndrome 1 2019-06-28 no assertion criteria provided clinical testing

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