ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)

gnomAD frequency: 0.00014  dbSNP: rs184647895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964341 SCV001111540 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331289 SCV001523300 uncertain significance Developmental delay with autism spectrum disorder and gait instability 2019-02-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000964341 SCV003810756 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001331289 SCV002075096 not provided Developmental delay with autism spectrum disorder and gait instability no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-11-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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