ClinVar Miner

Submissions for variant NM_001365304.2(LOC112694756):c.*622-5C>T

gnomAD frequency: 0.00008  dbSNP: rs752764982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375296 SCV000396447 uncertain significance HNSHA due to aldolase A deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000375296 SCV001657458 likely benign HNSHA due to aldolase A deficiency 2024-01-06 criteria provided, single submitter clinical testing

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