ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr)

gnomAD frequency: 0.00118  dbSNP: rs112693024
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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 RCV000968553 SCV001116014 likely benign Alacrima, achalasia, and intellectual disability syndrome 2024-06-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480893 SCV004226003 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing BP4

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