ClinVar Miner

Submissions for variant NM_005763.4(AASS):c.2459A>G (p.Lys820Arg)

gnomAD frequency: 0.00420  dbSNP: rs73441002
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676851 SCV001041262 benign not provided 2023-11-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676851 SCV000802662 uncertain significance not provided 2016-03-15 no assertion criteria provided clinical testing

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