ClinVar Miner

Submissions for variant NM_001166412.2(SMOC2):c.635C>T (p.Ser212Leu)

gnomAD frequency: 0.00321  dbSNP: rs140807244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881300 SCV001024460 likely benign not provided 2024-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000881300 SCV005387148 uncertain significance not provided 2024-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004857737 SCV005507701 uncertain significance not specified 2024-11-20 criteria provided, single submitter clinical testing The c.668C>T (p.S223L) alteration is located in exon 7 (coding exon 7) of the SMOC2 gene. This alteration results from a C to T substitution at nucleotide position 668, causing the serine (S) at amino acid position 223 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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