ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val)

dbSNP: rs1601294872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027683 SCV001190248 likely pathogenic Teebi hypertelorism syndrome; Autosomal dominant Opitz G/BBB syndrome 2019-05-21 criteria provided, single submitter clinical testing

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