ClinVar Miner

Submissions for variant NM_006701.5(TXNL4A):c.74T>A (p.Val25Glu)

gnomAD frequency: 0.00003  dbSNP: rs142690672
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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 RCV001331611 SCV001523689 uncertain significance Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2019-08-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001331611 SCV002792722 uncertain significance Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 2021-09-28 criteria provided, single submitter clinical testing

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