ClinVar Miner

Submissions for variant NM_003038.5(SLC1A4):c.1182G>A (p.Ala394=)

gnomAD frequency: 0.00271  dbSNP: rs34416635
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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
CeGaT Center for Human Genetics Tuebingen RCV000513113 SCV000608942 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing LINC02245: BS2; SLC1A4: BP4, BP7, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000513113 SCV001028390 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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