ClinVar Miner

Submissions for variant NM_198276.3(TMEM17):c.306C>A (p.Asn102Lys) (rs201339749)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000664048 SCV000787462 uncertain significance Orofaciodigital syndrome I 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, for Orofaciodigital syndrome, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2-Supporting => PM2 downgraded in strength to Supporting. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:26982032). PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:26982032).

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