ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.941-5C>T

gnomAD frequency: 0.00014  dbSNP: rs377622082
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 RCV000939590 SCV001085439 likely benign Aspartylglucosaminuria 2023-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000939590 SCV001467408 uncertain significance Aspartylglucosaminuria 2020-08-13 no assertion criteria provided clinical testing

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