ClinVar Miner

Submissions for variant NM_025144.4(ALPK1):c.3350T>C (p.Leu1117Pro)

gnomAD frequency: 0.00790  dbSNP: rs35756863
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968938 SCV001116422 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968938 SCV004148708 benign not provided 2023-02-01 criteria provided, single submitter clinical testing ALPK1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000968938 SCV005304476 benign not provided criteria provided, single submitter not provided

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