ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.209+16C>T

gnomAD frequency: 0.07814  dbSNP: rs2267368
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518070 SCV001726703 benign Infantile neuroaxonal dystrophy 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579651 SCV005278704 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579651 SCV001808031 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700770 SCV001922001 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700770 SCV001974583 benign not specified no assertion criteria provided clinical testing

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