ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser)

gnomAD frequency: 0.00290  dbSNP: rs143519723
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176214 SCV000227830 benign not specified 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176214 SCV000311553 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891207 SCV001035008 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891207 SCV004146255 benign not provided 2025-02-01 criteria provided, single submitter clinical testing SRCAP: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000891207 SCV001743389 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000891207 SCV001928303 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000891207 SCV001965490 likely benign not provided no assertion criteria provided clinical testing

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