ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)

gnomAD frequency: 0.00043  dbSNP: rs200176373
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862132 SCV001002589 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
New York Genome Center RCV000862132 SCV001468796 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000862132 SCV001939748 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000862132 SCV004238817 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing

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