ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser)

gnomAD frequency: 0.00086  dbSNP: rs143873934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646738 SCV000768523 likely benign Leukocyte adhesion deficiency 3 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343973 SCV004058214 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.607C>T (p.P203S) alteration is located in exon 5 (coding exon 4) of the FERMT3 gene. This alteration results from a C to T substitution at nucleotide position 607, causing the proline (P) at amino acid position 203 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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