ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.585T>C (p.His195=)

dbSNP: rs1736860088
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 RCV001280249 SCV001694226 likely benign Aspartylglucosaminuria 2021-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280249 SCV001467413 uncertain significance Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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