ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004257218 SCV003887899 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.14162G>C (p.R4721T) alteration is located in exon 91 (coding exon 91) of the HMCN1 gene. This alteration results from a G to C substitution at nucleotide position 14162, causing the arginine (R) at amino acid position 4721 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779653 SCV004659578 likely benign not provided 2024-02-25 criteria provided, single submitter clinical testing

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