ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.1882G>A (p.Ala628Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005029177 SCV005661498 uncertain significance Autosomal recessive nonsyndromic hearing loss 98; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; Tooth agenesis, selective, 10 2024-06-05 criteria provided, single submitter clinical testing

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