ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.3220C>G (p.Gln1074Glu)

gnomAD frequency: 0.98285  dbSNP: rs1699107
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002070406 SCV002407890 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002070406 SCV005235321 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579836 SCV001808672 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579836 SCV001967113 benign not specified no assertion criteria provided clinical testing

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