ClinVar Miner

Submissions for variant NM_006016.6(CD164):c.221G>A (p.Ser74Asn)

gnomAD frequency: 0.00006  dbSNP: rs762977439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768041 SCV002008387 likely benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017862 SCV004848874 benign not specified 2022-11-21 criteria provided, single submitter clinical testing The p.Ser74Asn variant in CD164 is classified as benign because it has been identified in 0.3% (62/19936) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001768041 SCV005817680 likely benign not provided 2024-10-11 criteria provided, single submitter clinical testing

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