ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.142-63G>C

gnomAD frequency: 0.52268  dbSNP: rs9783783
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518205 SCV001726859 benign HNSHA due to aldolase A deficiency 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518205 SCV001769039 benign HNSHA due to aldolase A deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001692416 SCV001908194 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692416 SCV005289069 benign not provided criteria provided, single submitter not provided

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